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rs34240441

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs34240441(C;C)
Make rs34240441(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225622
GeneHBB
is asnp
is mentioned by
dbSNPrs34240441
ebirs34240441
HLIrs34240441
Exacrs34240441
Varsomers34240441
Maprs34240441
PheGenIrs34240441
hapmaprs34240441
1000 genomesrs34240441
hgdprs34240441
ensemblrs34240441
gopubmedrs34240441
geneviewrs34240441
scholarrs34240441
googlers34240441
pharmgkbrs34240441
gwascentralrs34240441
openSNPrs34240441
23andMers34240441
23andMe allrs34240441
SNP Nexus

SNPshotrs34240441
SNPdbers34240441
MSV3drs34240441
GWAS Ctlgrs34240441
Max Magnitude0
OMIM141900
Desc
Variant0108
Relatedalso
ClinVar
Risk rs34240441(A,C;A,C)
Alt rs34240441(A,C;A,C)
Reference rs34240441(T;T)
Significance Other
Disease HEMOGLOBIN HINSDALE
Variation info
Gene HBB
CLNDBN HEMOGLOBIN HINSDALE
Reversed 1
HGVS NC_000011.9:g.5246852A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000016381.2,


[PMID 2513289] Hb Hinsdale [beta 139 (H17)Asn----Lys]: a variant in the central cavity showing reduced affinity for oxygen and 2,3-diphosphoglycerate.


[PMID 8006968] Chloride masks effects of opposing positive charges in Hb A and Hb Hinsdale (beta 139 Asn-->Lys) that can modulate cooperativity as well as oxygen affinity.